Hidden in the mesentery – surgical management of bleeding gastrointestinal stromal tumor in neurofibromatosis type I

Česká verze

Authors: M. Škrabal; T. Vidim; K. Veškrňa
Authors place of work: Chirurgické oddělení, Oblastní nemocnice Kolín, a. s., nemocnice Středočeského kraje
Published in the journal: Rozhl. Chir., 2026, roč. 105, č. 3, s. 134-141.
Category: Kazuistika
doi: https://doi.org/10.48095/ccrvch2026134

Summary

Introduction: This report on neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, highlights the diversity of clinical manifestations associated with this condition. In addition to the predominant neurological symptomatology, this work also reveals the rarer involvement of the gastrointestinal tract in the form of an associated gastrointestinal stromal tumor (GIST). NF1 is an autosomal dominant genetic disorder with multisystem involvement, most commonly affecting the nervous system, skin, and skeleton. In approximately 7% of patients with NF1, a GIST may develop, representing the most frequent intestinal manifestation of neurofibromatosis.

Case report: The case of a female patient with genetically confirmed and previously known NF1 initially presented with vertigo, anemia, and melena, ultimately leading to the diagnosis of a bleeding GIST. The tumor was confirmed only through histological examination following intestinal resection.

Conclusion: In patients with NF1, GIST typically presents as multifocal disease with distinct biological behavior and absence of classical mutations. The primary treatment is surgical resection, indicated based on symptoms or tumor size. Hemorrhage from GIST represents both a diagnostic challenge and a serious complication, which could be mitigated through targeted surveillance, facilitating earlier detection and optimal timing of intervention.

Keywords:

GIST – Surgical resection – neurofibromatosis – intestinal hemorrhage – genetic mutation

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